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The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

The Leloir pathway, which consists of highly conserved enzymes, metabolizes galactose. Deficits in three enzymes in this pathway, namely galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK1), and UDP-galactose-4′-epimerase (GALE), are associated with genetic galactosemia. We recent...

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Detalles Bibliográficos
Autores principales: Kikuchi, Atsuo, Wada, Yoichi, Ohura, Toshihiro, Kure, Shigeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628924/
https://www.ncbi.nlm.nih.gov/pubmed/34842598
http://dx.doi.org/10.3390/ijns7040068
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author Kikuchi, Atsuo
Wada, Yoichi
Ohura, Toshihiro
Kure, Shigeo
author_facet Kikuchi, Atsuo
Wada, Yoichi
Ohura, Toshihiro
Kure, Shigeo
author_sort Kikuchi, Atsuo
collection PubMed
description The Leloir pathway, which consists of highly conserved enzymes, metabolizes galactose. Deficits in three enzymes in this pathway, namely galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK1), and UDP-galactose-4′-epimerase (GALE), are associated with genetic galactosemia. We recently identified patients with galactosemia and biallelic variants in GALM, encoding galactose epimerase (GALM), an enzyme that is directly upstream of GALK1. GALM deficiency was subsequently designated as type IV galactosemia. Currently, all the published patients with biallelic GALM variants were found through newborn screening in Japan. Here, we review GALM deficiency and describe how we discovered this relatively mild but not rare disease through the newborn screening system in Japan.
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spelling pubmed-86289242021-11-30 The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan Kikuchi, Atsuo Wada, Yoichi Ohura, Toshihiro Kure, Shigeo Int J Neonatal Screen Review The Leloir pathway, which consists of highly conserved enzymes, metabolizes galactose. Deficits in three enzymes in this pathway, namely galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK1), and UDP-galactose-4′-epimerase (GALE), are associated with genetic galactosemia. We recently identified patients with galactosemia and biallelic variants in GALM, encoding galactose epimerase (GALM), an enzyme that is directly upstream of GALK1. GALM deficiency was subsequently designated as type IV galactosemia. Currently, all the published patients with biallelic GALM variants were found through newborn screening in Japan. Here, we review GALM deficiency and describe how we discovered this relatively mild but not rare disease through the newborn screening system in Japan. MDPI 2021-10-25 /pmc/articles/PMC8628924/ /pubmed/34842598 http://dx.doi.org/10.3390/ijns7040068 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Kikuchi, Atsuo
Wada, Yoichi
Ohura, Toshihiro
Kure, Shigeo
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
title The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
title_full The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
title_fullStr The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
title_full_unstemmed The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
title_short The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
title_sort discovery of galm deficiency (type iv galactosemia) and newborn screening system for galactosemia in japan
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628924/
https://www.ncbi.nlm.nih.gov/pubmed/34842598
http://dx.doi.org/10.3390/ijns7040068
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